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    Autosomal Dominant Hereditary Ataxia

    Important
    It is possible that the main title of the report Autosomal Dominant Hereditary Ataxia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • SCA
    • dentato-rubro-pallido-luysian atrophy
    • episodic ataxia
    • progressive cerebellar ataxia, familial
    • spinocerebellar ataxia

    Disorder Subdivisions

    • None

    General Discussion

    The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.

    The classification of hereditary ataxias is complex with several schools of thought vying for recognition. This report follows the classification presented by Dr. Thomas D. Bird and the University of Washington's GeneReviews.

    This classification is based on the pattern of inheritance or mode of genetic transmission of the disorder: i.e., autosomal dominant, autosomal recessive and X-linked. The autosomal dominant ataxias, also called the spinocerebellar ataxias, are usually identified as SCA1 through SCA37. Also included are several "episodic ataxias", as well as a very rare disorder known as DRPLA (dentato-rubro-pallido-luysian atrophy). This report deals with the autosomal dominant hereditary ataxias. There are fewer autosomal recessive hereditary ataxias than autosomal dominant hereditary ataxias, and X-linked forms of ataxia are very rare.

    At one time, all autosomal dominant ataxias were called Marie's ataxia and all autosomal recessive ataxias were called Friedreich's ataxia. This is no longer appropriate because there is now much more accurate information about these diseases.

    Resources

    National Ataxia Foundation
    2600 Fernbrook Lane Suite 119
    Minneapolis, MN 55447
    USA
    Tel: (763)553-0020
    Fax: (763)553-0167
    Email: naf@ataxia.org
    Internet: http://www.ataxia.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Canadian Association for Familial Ataxias - Claude St-Jean Foundation
    3800 Radisson Street Office 110
    Montreal
    Quebec, H1M 1X6
    Canada
    Tel: 5143218684
    Tel: 8553218684
    Email: ataxie@lacaf.org
    Internet: http://www.lacaf.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Movement Disorder Society
    555 E. Wells Street
    Suite 1100
    Milwaukee, WI 53202-3823
    Tel: (414)276-2145
    Fax: (414)276-3349
    Email: info@movementdisorders.org
    Internet: http://www.movementdisorders.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/22/2014
    Copyright 1989, 1997, 2004, 2011, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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